regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LILRB3_chr19_54211278_54228007 | 54220541 | T | TTCCAGGG others(19740): Show |
frameshift_variant others(1): Show |
HIGH | HG00741.hp2 | a0051 | a0051c0066 | a0051c0066t0002 | a0051c0066t0002g0133 | 1 | 455 | 0.0022 | 19747 | c.124 others(19756): Show |
p.His others(5): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1275/2742 | 1244/1896 | 415/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54222365 | G | GTGTCATG others(19198): Show |
frameshift_variant others(1): Show |
HIGH | HG02886.hp1 | a0036 | a0036c0069 | a0036c0069t0020 | a0036c0069t0020g0050 | 1 | 455 | 0.0022 | 19205 | c.267 others(19212): Show |
p.Gln others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 3/13 | 298/2742 | 267/1896 | 89/631 | chr19 | TogoVar | ||
LILRB5_chr19_54244421_54262273 | 54256526 | C | T | stop_gained | HIGH | NA19079.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0103 | 1 | 474 | 0.0021 | 0 | c.318 others(3): Show |
p.Trp others(4): Show |
LILRB5 | ENSG00000105609.17 | transcript | ENST00000449561.3 | protein_coding | 3/13 | 398/3221 | 318/1776 | 106/591 | chr19 | TogoVar | ||
LIPC_chr15_58426991_58574844 | 58538437 | C | T | stop_gained | HIGH | HG01934.hp2 | a0008 | a0008c0046 | a0008c0046t0002 | a0008c0046t0002g0227 | 1 | 358 | 0.0028 | 0 | c.193 others(3): Show |
p.Arg others(3): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 2/9 | 235/2559 | 193/1500 | 65/499 | chr15 | TogoVar | ||
LIPJ_chr10_88581762_88611976 | 88596714 | A | ATAGTGAA others(71): Show |
stop_gained others(1): Show |
HIGH | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 410 | 0.0024 | 78 | c.577 others(88): Show |
p.Ala others(91): Show |
LIPJ | ENSG00000204022.9 | transcript | ENST00000371939.7 | protein_coding | 8/11 | 895/1484 | 581/1101 | 194/366 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
LIPK_chr10_88701249_88757776 | 88737707 | C | T | stop_gained | HIGH | HG06807.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0154 | 1 | 350 | 0.0029 | 0 | c.742 others(3): Show |
p.Arg others(4): Show |
LIPK | ENSG00000204021.5 | transcript | ENST00000404190.3 | protein_coding | 7/10 | 825/1303 | 742/1200 | 248/399 | chr10 | TogoVar | ||
LMBR1L_chr12_49092139_49115847 | 49098003 | G | GGGTCAGC others(30): Show |
frameshift_variant others(1): Show |
HIGH | HG02129.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0066 | 1 | 380 | 0.0026 | 37 | c.134 others(46): Show |
p.Thr others(5): Show |
LMBR1L | ENSG00000139636.16 | transcript | ENST00000267102.13 | protein_coding | 16/17 | 1634/2295 | 1342/1470 | 448/489 | chr12 | TogoVar | ||
LMOD3_chr3_69101065_69127595 | 69118708 | A | C | stop_gained | HIGH | NA18986.hp1 | a0000 | a0000c0019 | a0000c0019t0015 | a0000c0019t0015g0120 | 1 | 428 | 0.0023 | 0 | c.164 others(4): Show |
p.Tyr others(4): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/3 | 1856/4922 | 1647/1683 | 549/560 | chr3 | TogoVar | ||
LOC112267897_chr13_63741741_63753176 | 63747151 | C | A | stop_gained | HIGH | NA18982.hp2 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0000 | 1 | 426 | 0.0024 | 0 | c.351 others(3): Show |
p.Tyr others(4): Show |
LOC112267897 | ENSG00000237378.3 | transcript | ENST00000611641.1 | protein_coding | 1/1 | 411/1436 | 351/390 | 117/129 | chr13 | TogoVar | ||
LOC122394732_chr9_87951214_87961883 | 87956402 | C | T | stop_gained | HIGH | HG03130.hp2 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 418 | 0.0048 | 0 | c.136 others(3): Show |
p.Gln others(3): Show |
LOC122394732 | ENSG00000283205.1 | transcript | ENST00000636536.1 | protein_coding | 1/1 | 189/670 | 136/234 | 46/77 | chr9 | TogoVar | ||
LOC128071547_chr12_120529697_120539957 | 120534904 | C | T | stop_gained | HIGH | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 408 | 0.0025 | 0 | c.208 others(3): Show |
p.Gln others(3): Show |
LOC128071547 | ENSG00000288623.1 | transcript | ENST00000675818.1 | protein_coding | 1/1 | 208/261 | 208/261 | 70/86 | chr12 | TogoVar | ||
LOC128854680_chr10_75100669_75114157 | 75105731 | G | A | stop_gained | HIGH | HG03098.hp1 | a0007 | a0007c0010 | a0007c0010t0000 | a0007c0010t0000g0044 | 1 | 402 | 0.0025 | 0 | c.505 others(3): Show |
p.Arg others(4): Show |
LOC128854680 | ENSG00000293543.1 | transcript | ENST00000713560.1 | protein_coding | 3/3 | 505/567 | 505/567 | 169/188 | chr10 | TogoVar | ||
LOC400499_chr16_11367015_11532247 | 11401370 | C | A | stop_gained | HIGH | NA19030.hp1 | a0155 | a0155c0192 | a0155c0192t0007 | a0155c0192t0007g0026 | 1 | 310 | 0.0032 | 0 | c.741 others(4): Show |
p.Glu others(5): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 50/67 | 7486/10754 | 7414/9963 | 2472/3320 | chr16 | TogoVar | ||
LOC400499_chr16_11367015_11532247 | 11414425 | G | A | stop_gained | HIGH | HG02451.hp1 HG02723.hp1 |
a0032 | a0032c0184a0032c0185 | a0032c0184t0004a0032c0185t0002 | a0032c0184t0004g0288a0032c0185t0002g0168 | 2 | 310 | 0.0065 | 0 | c.667 others(4): Show |
p.Arg others(5): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 44/67 | 6748/10754 | 6676/9963 | 2226/3320 | chr16 | TogoVar | ||
LONP1_chr19_5686834_5725146 | 5694531 | T | A | stop_gained | HIGH | NA18954.hp1 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0274 | 1 | 386 | 0.0026 | 0 | c.217 others(4): Show |
p.Lys others(4): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 15/18 | 2190/3092 | 2176/2880 | 726/959 | chr19 | TogoVar | ||
LONP1_chr19_5686834_5725146 | 5694532 | G | C | stop_gained | HIGH | NA18954.hp1 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0274 | 1 | 386 | 0.0026 | 0 | c.217 others(4): Show |
p.Tyr others(4): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 15/18 | 2189/3092 | 2175/2880 | 725/959 | chr19 | TogoVar | ||
LONP1_chr19_5686834_5725146 | 5694548 | A | T | stop_gained | HIGH | NA18954.hp1 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0274 | 1 | 386 | 0.0026 | 0 | c.215 others(4): Show |
p.Leu others(4): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 15/18 | 2173/3092 | 2159/2880 | 720/959 | chr19 | TogoVar | ||
LOXL4_chr10_98242690_98273194 | 98252462 | G | T | stop_gained | HIGH | HG02602.hp1 | a0021 | a0021c0013 | a0021c0013t0001 | a0021c0013t0001g0135 | 1 | 438 | 0.0023 | 0 | c.184 others(4): Show |
p.Tyr others(4): Show |
LOXL4 | ENSG00000138131.4 | transcript | ENST00000260702.4 | protein_coding | 12/15 | 1937/3597 | 1842/2271 | 614/756 | chr10 | TogoVar | ||
LPA_chr6_160526482_160669275 | 160644847 | G | GCATTTGG others(38815): Show |
frameshift_variant others(2): Show |
HIGH | HG02818.hp2 | a0033 | a0033c0053 | a0033c0053t0001 | a0033c0053t0001g0111 | 1 | 148 | 0.0068 | 38822 | c.550 others(38829): Show |
p.Ala others(5): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 4/39 | 611/6431 | 550/6123 | 184/2040 | chr6 | TogoVar | ||
LPIN3_chr20_41335821_41365582 | 41354711 | C | T | stop_gained | HIGH | HG01993.hp2 | a0011 | a0011c0019 | a0011c0019t0003 | a0011c0019t0003g0003 | 1 | 404 | 0.0025 | 0 | c.159 others(4): Show |
p.Arg others(4): Show |
LPIN3 | ENSG00000132793.12 | transcript | ENST00000373257.8 | protein_coding | 12/20 | 1784/4462 | 1594/2556 | 532/851 | chr20 | TogoVar | ||
LPL_chr8_19934253_19972259 | 19962213 | C | G | stop_gained | HIGH | HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show |
a0002a0009 | a0002c0004a0002c0007a0002c0032others(3): Show | a0002c0004t0004a0002c0004t0025a0002c0007t0004others(4): Show | a0002c0004t0004g0005a0002c0004t0004g0020a0002c0004t0004g0022others(22): Show | 34 | 384 | 0.0885 | 0 | c.142 others(4): Show |
p.Ser others(4): Show |
LPL | ENSG00000175445.17 | transcript | ENST00000650287.1 | protein_coding | 9/10 | 1609/3565 | 1421/1428 | 474/475 | chr8 | TogoVar | ||
LRCOL1_chr12_132598151_132615582 | 132604713 | C | T | stop_gained | HIGH | HG01928.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0091 | 1 | 390 | 0.0026 | 0 | c.224 others(3): Show |
p.Trp others(3): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 3/6 | 497/1004 | 224/480 | 75/159 | chr12 | TogoVar | ||
LRP1_chr12_57123483_57218361 | 57192930 | C | A | stop_gained | HIGH | HG03669.hp1 | a0007 | a0007c0061 | a0007c0061t0001 | a0007c0061t0001g0084 | 1 | 276 | 0.0036 | 0 | c.751 others(4): Show |
p.Cys others(5): Show |
LRP1 | ENSG00000123384.14 | transcript | ENST00000243077.8 | protein_coding | 45/89 | 7997/14923 | 7515/13635 | 2505/4544 | chr12 | TogoVar | ||
LRR1_chr14_49593940_49619672 | 49608102 | C | T | stop_gained | HIGH | HG01257.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0013 | 1 | 312 | 0.0032 | 0 | c.985 others(3): Show |
p.Arg others(4): Show |
LRR1 | ENSG00000165501.17 | transcript | ENST00000298288.11 | protein_coding | 3/4 | 1066/1502 | 985/1245 | 329/414 | chr14 | TogoVar | ||
LRRC27_chr10_132327193_132386508 | 132355821 | C | T | stop_gained | HIGH | HG02630.hp1 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0186 | 1 | 290 | 0.0035 | 0 | c.110 others(4): Show |
p.Arg others(4): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/11 | 1217/7971 | 1105/1593 | 369/530 | chr10 | TogoVar | ||
LRRC66_chr4_51988652_52025363 | 52017360 | C | T | stop_gained | HIGH | NA18955.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0084 | 1 | 336 | 0.0030 | 0 | c.254 others(3): Show |
p.Trp others(3): Show |
LRRC66 | ENSG00000188993.4 | transcript | ENST00000682860.1 | protein_coding | 2/5 | 319/3435 | 254/2643 | 85/880 | chr4 | TogoVar | ||
LRRC9_chr14_59915144_60071817 | 60008141 | G | A | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 |
a0008 | a0008c0011 | a0008c0011t0003a0008c0011t0006 | a0008c0011t0003g0212a0008c0011t0006g0211 | 2 | 322 | 0.0062 | 0 | c.311 others(4): Show |
p.Trp others(5): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 23/33 | 3276/8103 | 3113/4485 | 1038/1494 | chr14 | TogoVar | ||
LRRK1_chr15_100914357_101083257 | 101051741 | C | CACTCATG others(8): Show |
stop_gained others(1): Show |
HIGH | NA18977.hp1 | a0011 | a0011c0116 | a0011c0116t0069 | a0011c0116t0069g0262 | 1 | 338 | 0.0030 | 15 | c.347 others(24): Show |
p.Gln others(30): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 24/34 | 3703/15674 | 3486/6048 | 1162/2015 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
LTV1_chr6_143838338_143868812 | 143860480 | G | T | stop_gained | HIGH | NA18971.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0013 | 1 | 412 | 0.0024 | 0 | c.850 others(3): Show |
p.Glu others(4): Show |
LTV1 | ENSG00000135521.9 | transcript | ENST00000367576.6 | protein_coding | 7/11 | 990/1853 | 850/1428 | 284/475 | chr6 | TogoVar | ||
LUZP1_chr1_23079030_23173856 | 23088933 | G | A | stop_gained | HIGH | NA18964.hp2 NA19007.hp1 |
a0011 | a0011c0012 | a0011c0012t0015 | a0011c0012t0015g0248a0011c0012t0015g0249 | 2 | 322 | 0.0062 | 0 | c.319 others(4): Show |
p.Arg others(5): Show |
LUZP1 | ENSG00000169641.15 | transcript | ENST00000302291.9 | protein_coding | 4/4 | 3509/8412 | 3193/3231 | 1065/1076 | chr1 | TogoVar | ||
LVRN_chr5_115957475_116032606 | 116012405 | G | A | stop_gained | HIGH | HG02970.hp1 NA19240.hp2 |
a0010 | a0010c0016 | a0010c0016t0002 | a0010c0016t0002g0243a0010c0016t0002g0244 | 2 | 418 | 0.0048 | 0 | c.227 others(4): Show |
p.Trp others(4): Show |
LVRN | ENSG00000172901.21 | transcript | ENST00000357872.9 | protein_coding | 15/20 | 2422/4604 | 2279/2973 | 760/990 | chr5 | TogoVar | ||
LY75_chr2_159798355_159909756 | 159858447 | C | T | stop_gained | HIGH | HG01109.hp2 | a0038 | a0038c0056 | a0038c0056t0001 | a0038c0056t0001g0248 | 1 | 330 | 0.0030 | 0 | c.229 others(4): Show |
p.Trp others(4): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 16/35 | 2372/6932 | 2298/5169 | 766/1722 | chr2 | TogoVar | ||
LY96_chr8_73986392_74034079 | 73991550 | C | G | stop_gained | HIGH | NA18988.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0207 | 1 | 314 | 0.0032 | 0 | c.108 others(3): Show |
p.Tyr others(3): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | 159/559 | 108/483 | 36/160 | chr8 | TogoVar | ||
LY9_chr1_160791174_160833255 | 160814452 | G | T | stop_gained | HIGH | NA18953.hp2 NA18987.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0010a0006c0007t0001g0121 | 2 | 394 | 0.0051 | 0 | c.763 others(3): Show |
p.Glu others(4): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 4/10 | 777/2421 | 763/1968 | 255/655 | chr1 | TogoVar | ||
LYG2_chr2_99237246_99260666 | 99245402 | G | A | stop_gained | HIGH | HG02083.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0299 | 1 | 426 | 0.0024 | 0 | c.241 others(3): Show |
p.Gln others(3): Show |
LYG2 | ENSG00000185674.10 | transcript | ENST00000333017.7 | protein_coding | 5/7 | 448/964 | 241/639 | 81/212 | chr2 | TogoVar | ||
LYPD2_chr8_142745150_142757532 | 142750291 | G | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 | 2 | 396 | 0.0051 | 0 | c.370 others(3): Show |
p.Arg others(4): Show |
LYPD2 | ENSG00000197353.4 | transcript | ENST00000359228.4 | protein_coding | 3/3 | 451/592 | 370/378 | 124/125 | chr8 | TogoVar | ||
LYPD8_chr1_248734415_248760759 | 248751042 | C | CAAGCACT others(117): Show |
frameshift_variant others(1): Show |
HIGH | HG02559.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0267 | 1 | 374 | 0.0027 | 124 | c.-49 others(133): Show |
p.Val others(4): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 3/7 | 291/1162 | 39/714 | 13/237 | chr1 | TogoVar | ||
LYSET_chr14_93180317_93193463 | 93186451 | T | A | stop_gained | HIGH | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0016 | 1 | 429 | 0.0023 | 0 | c.272 others(3): Show |
p.Leu others(3): Show |
LYSET | ENSG00000153485.6 | transcript | ENST00000415050.3 | protein_coding | 2/2 | 361/2373 | 272/492 | 91/163 | chr14 | TogoVar | ||
LYZL4_chr3_42392083_42415610 | 42397312 | G | A | stop_gained | HIGH | NA19078.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0121 | 1 | 396 | 0.0025 | 0 | c.394 others(3): Show |
p.Gln others(4): Show |
LYZL4 | ENSG00000157093.9 | transcript | ENST00000287748.8 | protein_coding | 5/5 | 680/909 | 394/441 | 132/146 | chr3 | TogoVar | ||
LZTR1_chr22_20977297_21004032 | 20993977 | G | A | stop_gained | HIGH | HG00323.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0086 | 1 | 446 | 0.0022 | 0 | c.140 others(4): Show |
p.Trp others(4): Show |
LZTR1 | ENSG00000099949.22 | transcript | ENST00000646124.2 | protein_coding | 13/21 | 1482/4282 | 1407/2523 | 469/840 | chr22 | TogoVar | ||
MADD_chr11_47265133_47335031 | 47285079 | C | T | stop_gained | HIGH | HG00639.hp2 HG01106.hp2 HG02257.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0184a0006c0009t0001g0185a0006c0009t0001g0194 | 3 | 344 | 0.0087 | 0 | c.229 others(4): Show |
p.Arg others(4): Show |
MADD | ENSG00000110514.20 | transcript | ENST00000706887.1 | protein_coding | 13/37 | 2498/6036 | 2296/4953 | 766/1650 | chr11 | TogoVar | ||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEB18_chrX_26133343_26145736 | 26139272 | C | G | stop_gained | HIGH | NA18906.hp2 | a0007 | a0007c0004 | a0007c0004t0002 | a0007c0004t0002g0001 | 1 | 326 | 0.0031 | 0 | c.287 others(3): Show |
p.Ser others(3): Show |
MAGEB18 | ENSG00000176774.6 | transcript | ENST00000325250.2 | protein_coding | 2/3 | 474/1812 | 287/1032 | 96/343 | chrX | TogoVar | ||
MAGEB18_chrX_26133343_26145736 | 26139290 | G | A | stop_gained | HIGH | NA18906.hp2 | a0007 | a0007c0004 | a0007c0004t0002 | a0007c0004t0002g0001 | 1 | 326 | 0.0031 | 0 | c.305 others(3): Show |
p.Trp others(4): Show |
MAGEB18 | ENSG00000176774.6 | transcript | ENST00000325250.2 | protein_coding | 2/3 | 492/1812 | 305/1032 | 102/343 | chrX | TogoVar | ||
MAGEC2_chrX_142197342_142210290 | 142202910 | C | A | stop_gained | HIGH | HG02523.hp2 | a0005 | a0005c0005 | a0005c0005t0012 | a0005c0005t0012g0024 | 1 | 331 | 0.0030 | 0 | c.107 others(4): Show |
p.Glu others(4): Show |
MAGEC2 | ENSG00000046774.10 | transcript | ENST00000247452.4 | protein_coding | 3/3 | 1426/1994 | 1078/1122 | 360/373 | chrX | TogoVar | ||
MAGEC3_chrX_141833316_141902832 | 141881464 | C | T | stop_gained | HIGH | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(1): Show |
a0010 | a0010c0021a0010c0022 | a0010c0021t0000a0010c0022t0000 | a0010c0021t0000g0223a0010c0021t0000g0257a0010c0022t0000g0209others(1): Show | 4 | 298 | 0.0134 | 0 | c.577 others(3): Show |
p.Gln others(4): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 4/8 | 577/1932 | 577/1932 | 193/643 | chrX | TogoVar | ||
MAGEE1_chrX_76422710_76436342 | 76428898 | C | CCTGA | frameshift_variant others(1): Show |
HIGH | NA18997.hp1 | a0007 | a0007c0020 | a0007c0020t0006 | a0007c0020t0006g0000 | 1 | 292 | 0.0034 | 4 | c.969 others(11): Show |
p.Pro others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1191/3633 | 970/2874 | 324/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar |